| HPO |
HP:0012298 |
Long middle phalanx of finger |
"Increased length of the middle phalanx of finger." [HPO:probinson] |
— |
HP:0009833 |
| HPO |
HP:0012299 |
Long distal phalanx of finger |
"Increased length of the distal phalanx of finger." [HPO:probinson] |
— |
HP:0009832 |
| HPO |
HP:0012300 |
Ureteral agenesis |
"Failure of the ureter to undergo development." [HPO:probinson] |
— |
HP:0025633 |
| HPO |
HP:0012301 |
Type II transferrin isoform profile |
"Abnormal transferrin isoform profile consistent with a type II congenital disorder of glycosylation." [HPO:probinson, PMID:15105360, PMID:22516080] |
There are several methods in use with which this feature can be diagnosed. Using HPLC analysis increased mono- and trisialotransferrin and reduced tetrasialotransferrin are observed. Using immunoaffinity column analysis, the tri-sialo/di-oligosaccharide transferrin ratio is abnormal. |
HP:0003160 |
| HPO |
HP:0012302 |
Herpes simplex encephalitis |
"A severe virus infection of the central nervous system by the herpes simplex virus (HSV)." [HPO:probinson] |
Although infection with HSV is very common in the population, only a miniscule proportion of infected persons develop encephalitis, so that an occurrence of HSV encephalitis is interpreted as a sign of increased susceptibility to HSV. |
HP:0033993 |
| HPO |
HP:0012303 |
Abnormal aortic arch morphology |
"An anomaly of the arch of aorta." [HPO:probinson] |
— |
HP:0001679 |
| HPO |
HP:0012304 |
Hypoplastic aortic arch |
"Underdevelopment of the arch of aorta." [HPO:probinson] |
— |
HP:0012303 |
| HPO |
HP:0012305 |
Coarctation of the descending aortic arch |
"Narrowing or constriction of the aorta localized to the region of the descending trunk of arch of aorta." [HPO:probinson] |
— |
HP:0001680, HP:0012303 |
| HPO |
HP:0012306 |
Abnormal rib ossification |
"An anomaly of the process of rib bone formation." [HPO:probinson] |
— |
HP:0000772, HP:0003336 |
| HPO |
HP:0012307 |
Spatulate ribs |
"Ribs that are increased in width and taper to the posterior ends." [HPO:probinson, PMID:20504305] |
This morphological anomaly of the rib has been compared to a canoe panel or a spatula, whence the name. |
HP:0000885 |
| HPO |
HP:0012308 |
Decreased serum complement C9 |
"A reduced level of the complement component C9 in circulation." [https://emedicine.medscape.com/article/135478-overview] |
— |
HP:0033057 |
| HPO |
HP:0012309 |
Cutaneous amyloidosis |
"The presence of amyloid deposition in the superficial dermis." [HPO:probinson, PMID:19690585] |
— |
HP:0011034 |
| HPO |
HP:0012310 |
Abnormal monocyte count |
"An anomaly in the number of monocytes, which are myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells." [HPO:probinson] |
— |
HP:0011893, HP:0012144 |
| HPO |
HP:0012311 |
Monocytosis |
"An increased number of circulating monocytes." [HPO:probinson] |
— |
HP:0012310 |
| HPO |
HP:0012312 |
Monocytopenia |
"An decreased number of circulating monocytes." [HPO:probinson] |
— |
HP:0012310 |
| HPO |
HP:0012313 |
Heberden's node |
"Bony swelling of the distal interphalangeal joint (DIP) associated with the formation of osteophytes (calcific spurs) of the articular (joint) cartilage that are visible radiographically." [HPO:probinson, PMID:10531070, PMID:17488856, PMID:9709182] |
Heberden's nodes are nodular deformities at the distal interphalangeal joint of the fingers (usually the middle and index) and are commonly seen in the elderly. The deformity is created by osteophyte formation and synovial thickening at the margin ofan osteoarthritic joint. Significant functional problems are rarely encountered though patients may suffer with stiffness and pain. Surgical intervention is seldom indicated unless there is severe pain or instability. In such cases, a joint fusion may be appropriate. |
HP:0006247 |
| HPO |
HP:0012314 |
Bouchard's node |
"Bony swelling of the proximal interphalangeal joint (PIP) associated with the formation of osteophytes (calcific spurs) of the articular (joint) cartilage that are visible radiographically." [HPO:probinson, PMID:10531070, PMID:9709182] |
Heberden's nodes are generally a sign of osteoarthritis. |
HP:0006247 |
| HPO |
HP:0012315 |
Histiocytoma |
"A neoplasm containing histiocytes." [HPO:probinson] |
— |
HP:0012316 |
| HPO |
HP:0012316 |
Fibrous tissue neoplasm |
"Any neoplasm composed of fibrous tissue." [HPO:probinson] |
— |
HP:0011792 |
| HPO |
HP:0012317 |
Sacroiliac arthritis |
"Inflammation of the sacroiliac joint, generally accompanied by lower back pain." [HPO:probinson] |
— |
HP:0002758, HP:0100781 |
| HPO |
HP:0012318 |
Occipital neuralgia |
"A distinct type of headache characterized by piercing, throbbing, or electric-shock-like chronic pain in the upper neck, back of the head, and behind the ears, usually on one side." [HPO:probinson, PMID:21569290] |
Typically, the pain of occipital neuralgia begins at the base of the head and spreads upward within the distribution of the greater and lesser occipital nerves. Characteristically, it is neuropathic, with paroxysmal episodes of shooting electric shock-like symptoms. |
HP:0002315, HP:0033345 |
| HPO |
HP:0012319 |
Absent pigmentation of the abdomen |
"Lack of skin pigmentation (coloring) of the abdomen." [HPO:probinson] |
— |
HP:0200098 |
| HPO |
HP:0012320 |
Absent pigmentation of the limbs |
"Lack of skin pigmentation (coloring) of the arms and legs." [HPO:probinson] |
— |
HP:0200098 |
| HPO |
HP:0012321 |
D-2-hydroxyglutaric aciduria |
"An increased concentration of 2-hydroxyglutaric acid in the urine." [HPO:probinson, PMID:20847235] |
— |
HP:0032278 |
| HPO |
HP:0012322 |
Perifolliculitis |
"Inflammation surrounding hair follicles." [HPO:probinson] |
— |
HP:0011123 |